epilepsy

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
Eduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler, Padhraig Gormley, Andrea Ganna, Andrea Byrnes, Katharina Pernhorst, Mohammad R Toliat, Elmo Saarentaus, Daniel P Howrigan, Per Hoffman, Juan Francisco Miquel, Giancarlo V De Ferrari, Peter Nürnberg, Holger Lerche, Fritz Zimprich, Bern A Neubauer, Albert J Becker, Felix Rosenow, Emilio Perucca, Federico Zara, Yvonne G Weber, Dennis Lal

Journal of Medical Genetics Sep 2017, 54 (9) 598-606; DOI: 10.1136/jmedgenet-2016-104495
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier

Journal of Medical Genetics Dec 2016, 53 (12) 820-827; DOI: 10.1136/jmedgenet-2016-103880
Mutations in HECW2 are associated with intellectual disability and epilepsy
Jonatan Halvardson, Jin J Zhao, Ammar Zaghlool, Christian Wentzel, Patrik Georgii-Hemming, Else Månsson, Helena Ederth Sävmarker, Göran Brandberg, Cecilia Soussi Zander, Ann-Charlotte Thuresson, Lars Feuk

Journal of Medical Genetics Oct 2016, 53 (10) 697-704; DOI: 10.1136/jmedgenet-2016-103814
Identification of novel genetic causes of Rett syndrome-like phenotypes
Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado, Isabel Fineza Cruz, José Pedro Vieira, Renata Oliveira, Sofia Esteves, Sascha Sauer, Inger Jonasson, Ann-Christine Syvänen, Ulf Gyllensten, Dalila Pinto, Patrícia Maciel

Journal of Medical Genetics Mar 2016, 53 (3) 190-199; DOI: 10.1136/jmedgenet-2015-103568
Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects
Elena Parrini, Davide Mei, Maria Antonietta Pisanti, Serena Catarzi, Daniela Pucatti, Claudia Bianchini, Mario Mascalchi, Enrico Bertini, Amelia Morrone, Maria Luigia Cavaliere, Renzo Guerrini

Journal of Medical Genetics Jun 2015, 52 (6) 405-412; DOI: 10.1136/jmedgenet-2014-102959
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
Sarah E Heron, Leanne M Dibbens

Journal of Medical Genetics Mar 2013, 50 (3) 133-139; DOI: 10.1136/jmedgenet-2012-101406
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27
Arnold L Christianson, Roger E Stevenson, C H van der Meyden, Julie Pelser, Francois W Theron, Petro L van Rensburg, Michael Chandler, Charles E Schwartz

Journal of Medical Genetics Oct 1999, 36 (10) 759-766; DOI: 10.1136/jmg.36.10.759

Main menu

epilepsy

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

epilepsy

Pages